C21orf62

Last updated
EPCIP
Identifiers
Aliases EPCIP , B37, C21orf120, PRED81, chromosome 21 open reading frame 62, C21orf62
External IDs MGI: 1921637 HomoloGene: 49594 GeneCards: EPCIP
Orthologs
SpeciesHumanMouse
Entrez

56245

74387

Ensembl

ENSG00000262938
ENSG00000205929

ENSMUSG00000039851

UniProt

Q9NYP8

Q9D4G1

RefSeq (mRNA)

NM_001162495
NM_001162496
NM_019596

NM_001163695
NM_028905

RefSeq (protein)

NP_001155967
NP_001155968
NP_062542

NP_001157167
NP_083181

Location (UCSC) Chr 21: 32.79 – 32.81 Mb Chr 16: 91.05 – 91.1 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse
Figure 1. Predicted Structure of C21orf62 Gene.png
Figure 1.

Exosomal polycystin-1-interacting protein is a protein that, in humans, is encoded by the EPCIP gene. [6] EPCIP is found on human chromosome 21, and it is thought to be expressed in tissues of the brain and reproductive organs. [7] Additionally, EPCIP is highly expressed in ovarian surface epithelial cells during normal regulation, but is not expressed in cancerous ovarian surface epithelial cells. [7]

Contents

Gene

Common aliases of EPCIP are C21orf62, C21orf120, PRED81, and B37. [6] EPCIP is located on chromosome 21 in humans, and is specifically at the q22.11 position. [8] The EPCIP gene is 4132 base pairs in length and contains five exons. [6]

mRNA

The mRNA sequence of EPCIP in humans has one known isoform. This isoform is called uncharacterized protein C21orf62 isoform X1. This isoform is 458 base pairs, or 104 amino acids, in length, and it is significantly shorter than the most observed sequence of EPCIP in humans. In addition to having an isoform, EPCIP also has splice variants. All splice variants encode the same gene, but the differences in splice variant sequences occur in the 5' untranslated region of the mRNA sequence. [6]

Protein

General protein characteristics

The EPCIP protein in humans has a sequence that is 219 amino acids in length. [9] The primary sequence of EPCIP in humans has a molecular weight of 24.9 kDa and an isoelectric point of 8. [10] [11] When it's cleavable signal peptide, which spans amino acids 1-19, is removed, it has a molecular weight of 22.8 kDa and an isoelectric point of 7.8. [10] [11] [12] [13]

Protein composition

EPCIP in humans has higher cysteine and lower valine concentrations than expected compared to other human proteins. This trend, as showed in Table 1, is the same for other mammals. It does not, however, occur in taxa other than mammalia . [14]

Table 1. [14] Unusual amino acid concentrations of EPCIP in humans and orthologs.
Genus and SpeciesCommon NameOrganism Clade% CysteineAmino Acid Concentration of Cysteine Compared to Expected% ValineAmino Acid Concentration of Valine Compared to ExpectedOther Amino Acids with High or Low Concentration Compared to Expected
Homo sapiens HumanMammalia4.6%High3.2%Low-
Mus musculus House MouseMammalia4.3%High3.5%Low Glutamic Acid (1.7%, low)
Canis lupus familiaris DogMammalia4.1%High2.7%Low Leucine (14.2%, high)
Physeter catodon Sperm WhaleMammalia4.6%High4.1%Expected Serine (11.9%, high)
Gallus gallus ChickenAves3.1%Expected6.7%Expected Alanine (2.2%, low)

Glycine (3.1%, low)

Proline (1.8%, low)

Phenylalanine (7.1%, high)

Serine (12.4%, high)

Threonine (9.8%)

Chelonia mydas Green Sea Turtle Reptilia 3.6%Expected5.8%Expected Alanine (1.8%, low)

Serine (11.2%, high)

Protein structure

The protein structure of EPCIP in humans consists of a combination of alpha helices and beta sheets. [15] [16] Figure 1 shows a predicted structure of the protein. [5]

Post-translational modifications

EPCIP has a myristoylation site from amino acid 26–31. [17] It has a sumoylation site from amino acid 132–135. [17] [18] Additionally, it has a nuclear export signal from amino acid 98-104. [19]

Expression

Tissue expression

EPCIP is expressed in human tissues of the brain and reproductive organs. [6]

Expression level

EPCIP in humans is moderately expressed in the brain, kidneys, pancreas, prostate, testes, and ovaries. [6] [20] [21]

Regulation of expression

EPCIP is expressed during blastocyst, fetus, and adult states of human development. [20] It is overexpressed during some tumor states, including pancreatic, gastrointestinal, germ cell, and glioma tumors. [20]

Function

The specific function of EPCIP in humans is not yet well understood. [6]

Interacting proteins

EPCIP is thought to potentially interact with nine other proteins. [22] These interactions are shown in Table 2, and they were found through text mining.

Table 2. [22] Proteins with Evidence of Interaction with EPCIP
Protein Full NameProtein Name SymbolBrief Protein Description [6]
BCL2 Interacting Protein Like BNIPLMay function as a bridge molecule that promotes cell death.
Thymosin Beta 4, X-linked Pseudogene 4 TMSB4XP4Potentially influences actin polymerization.
Synovial Sarcoma X Family Member 4 SSX4May function as a repressor of transcription, and can be useful targets in cancer vaccine-based immunotherapy.
Crystallin Beta A2CRYBA2A major protein in vertebrate eyes that maintains lens transparency and reflective index.
Oral Cancer Overexpressed 1ORAOV1A gene that is frequently overexpressed in esophageal squamous cell cancer.
Oligodendrocyte Transcription Factor 1 OLIG1May be expressed during the time from process extension through membrane maintenance in oligodendrocytes.
PAX3 and PAX7 Binding Protein 1GCFC1 (PAXBP1)The encoded protein potentially binds to GC-rich DNA sequences. It is suggested that this gene is involved in the regulation of transcription.
Relaxin/Insulin Like Family Peptide Receptor 1 and 2 RXFP1 and RXFP2Encoded protein is a receptor for the protein hormone relaxin that influences sperm motility and pregnancy.

Clinical significance

EPCIP over or under expression is linked to some types of cancerous cells and tumors. [7] [20]

Homology

Paralogs

There are no known paralogs of EPCIP in humans at this time. [6]

Orthologs

There are currently 193 organisms that are known to be orthologs of EPCIP. [6] The orthologs of EPCIP are deuterostome animals in the clade Chordata . [6] Table 3 shows a range of EPCIP orthologs, their NCBI accession numbers, sequence lengths, and sequence identity to the EPCIP human protein. At this time, EPCIP is not known to have any protostome or invertebrate orthologs. [6]

Table 3. Orthologs of Human Protein EPCIP
Genus and SpeciesCommon NameOrganism CladeEstimated Date of Divergence from Humans (Millions of Years Ago) [23] Accession Number [9] Amino Acid Sequence Length [9] Corrected Sequence Identity to Human Protein [24] [25]
Homo sapiens Humanmammalia0NP_001155967.2219100%
Mus musculus House Mousemammalia90NP_083181.123068.2%
Meleagris gallopavo Wild Turkeyaves312XP_010721230.122556.4%
Chelonia mydas Green Sea Turtlereptilia312XP_007063646.122460.8%
Xenopus tropicalis Western Clawed Frogtetrapoda352NP_001004889.120748.9%
Latimeria chalumnae West Indian Ocean Coelacanthsarcopterygii413XP_005993681.223745.0%
Ictalurus punctatus Channel Catfishactinopterygii435XP_017326002.121429.6%
Callorhinchus milii Australian Ghostsharkcondrichthyes473XP_007904174.122240.4%
Figure 2. Evolution of EPCIP in humans over time. C21orf62 Gene Evolution in Humans.png
Figure 2. Evolution of EPCIP in humans over time.

Evolution rate

EPCIP has an evolution rate that is faster than cytochrome C and fibrinogen. Figure 2 shows the rate of evolution of the EPCIP gene over the past 473 million years.

Related Research Articles

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<span class="mw-page-title-main">Transmembrane protein 268</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">ANKRD24</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">PRR29</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">ERICH2</span> Protein-coding gene in the species Homo sapiens

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Cardiac-enriched FHL2-interacting protein (CEFIP) is a protein encoded by the gene C10orf71 on chromosome 10 open reading frame 71. It is primarily understood that this gene is moderately expressed in muscle tissue and cardiac tissue.

<span class="mw-page-title-main">FAM71F2</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">C2orf73</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">C5orf22</span> Protein-coding gene in the species Homo sapiens

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References

  1. 1 2 3 ENSG00000205929 GRCh38: Ensembl release 89: ENSG00000262938, ENSG00000205929 – Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000039851 – Ensembl, May 2017
  3. ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 Kelley L. "PHYRE2 Protein Fold Recognition Server". www.sbg.bio.ic.ac.uk. Retrieved 2017-05-07.
  6. 1 2 3 4 5 6 7 8 9 10 11 12 "EPCIP exosomal polycystin 1 interacting protein [ Homo sapiens (human) ]". www.ncbi.nlm.nih.gov. Retrieved 2024-05-15.
  7. 1 2 3 "Home - GEO Profiles - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-05-07.
  8. ↑ Database GH. "C21orf62 Gene - GeneCards | CU062 Protein | CU062 Antibody". www.genecards.org. Retrieved 2017-05-07.
  9. 1 2 3 4 "Protein". www.ncbi.nlm.nih.gov. Retrieved 2017-05-07.
  10. 1 2 Kramer J (1990). "AASTATS". Biology Workbench.
  11. 1 2 Toldo L. "PI Isoelectric Point Determination Program". Biology Workbench.
  12. ↑ "PSORT II server - GenScript". www.genscript.com. Retrieved 2017-05-07.
  13. ↑ Charpilloz JL. "TERMINUS - Welcome to terminus". terminus.unige.ch. Retrieved 2017-05-07.
  14. 1 2 Brendel V (1992). "Statistical Analysis of PS". Biology Workbench. Archived from the original on 2003-08-11. Retrieved 2017-02-06.
  15. ↑ Pearson WR (September 1998). "CHOFAS Analysis". Biology Workbench. Archived from the original on 2003-08-11. Retrieved 2017-02-06.
  16. ↑ Pappas GJ Jr (1974–1996). "PELE: Protein Structure Prediction". Biology Workbench. Archived from the original on 2003-08-11. Retrieved 2017-02-06.
  17. 1 2 "Motif Scan". myhits.isb-sib.ch. Retrieved 2017-05-07.
  18. ↑ The Cucko Workgroup (May 1, 2017). "GPS-SUMO 2.0 Online Service". sumosp.biocuckoo.org/online.php. Archived from the original on February 17, 2019. Retrieved May 5, 2017.
  19. ↑ la Cour T, Kiemer L, Mølgaard A, Gupta R, Skriver K, Brunak S (2004). "Analysis and prediction of leucine-rich nuclear export signals". Protein Eng. Des. Sel. 17 (6): 527–36. doi: 10.1093/protein/gzh062 . PMID   15314210.
  20. 1 2 3 4 "Home - UniGene - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-05-07.
  21. ↑ "The Human Protein Atlas". www.proteinatlas.org. Retrieved 2017-05-07.
  22. 1 2 "STRING: functional protein association networks". string-db.org. Retrieved 2017-05-07.
  23. ↑ "TimeTree :: The Timescale of Life". timetree.org. Retrieved 2017-05-07.
  24. ↑ "BLAST: Basic Local Alignment Search Tool". blast.ncbi.nlm.nih.gov. Retrieved 2017-05-07.
  25. ↑ Myers EW, Miller W (March 1988). "Optimal alignments in linear space". Computer Applications in the Biosciences. 4 (1): 11–17. doi: 10.1093/bioinformatics/4.1.11 . S2CID   8140207.
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